Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2017 2017
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2017 2017
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2012 2012
dbSNP: rs243865
rs243865
MMP2
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs1143627
rs1143627
IL1B
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs1554700718
rs1554700718
HNRNPK
59 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
56 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
dbSNP: rs121908120
rs121908120
WNT10A
19 0.701 0.280 2 218890289 missense variant T/A snv 1.4E-02 1.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs1800972
rs1800972
DEFB1
16 0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79 0.020 1.000 2 2014 2016
dbSNP: rs679620
rs679620
MMP3
17 0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57 0.010 < 0.001 1 2016 2016
dbSNP: rs1799946
rs1799946
DEFB1
13 0.732 0.360 8 6877909 5 prime UTR variant C/T snv 0.36 0.41 0.010 1.000 1 2016 2016
dbSNP: rs11362
rs11362
DEFB1
13 0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40 0.030 1.000 3 2014 2018
dbSNP: rs587784347
rs587784347
PLA2G6
38 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs2252070
rs2252070
MMP13
13 0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68 0.010 1.000 1 2012 2012
dbSNP: rs1126478
rs1126478
LTF
11 0.763 0.240 3 46459723 missense variant T/C snv 0.41 0.51 0.020 < 0.001 2 2014 2018
dbSNP: rs1441937959
rs1441937959
EFL1
20 0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 0.700 0
dbSNP: rs80356779
rs80356779
CPT1A
10 0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs1114167422
rs1114167422
DKC1 ; SNORA56
11 0.776 0.320 X 154773148 missense variant A/G snv 0.700 0
dbSNP: rs11003125
rs11003125
MBL2
7 0.790 0.480 10 52772254 upstream gene variant G/C snv 0.31 0.020 1.000 2 2017 2019
dbSNP: rs1126477
rs1126477
LTF
7 0.807 0.200 3 46459778 missense variant C/T snv 0.34 0.53 0.010 < 0.001 1 2018 2018
dbSNP: rs1569414
rs1569414
FAM118A
6 0.807 0.160 22 45331684 intron variant T/G snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs12355840
rs12355840
MIR202 ; MIR202HG
5 0.827 0.240 10 133247608 non coding transcript exon variant C/G;T snv 1.1E-04; 0.80 0.010 1.000 1 2018 2018
dbSNP: rs1784418
rs1784418
MMP20 ; LOC101928477
4 0.851 0.080 11 102613665 intron variant C/A;T snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs1884302
rs1884302 		4 0.851 0.120 20 7125642 intron variant T/C snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs2287074
rs2287074
MMP2
4 0.851 0.120 16 55493201 synonymous variant G/A;C snv 0.39; 8.0E-06 0.010 1.000 1 2016 2016